A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. (21st December 2015) - Ahmad, F.; Ansar, M.; Mehmood, S.; Izoduwa, A.; Lee, K.; Nasir, A.; Abrar, M.; Mehmood, S.; Ullah, A.; Aziz, A.; ,; Smith, J.D.; et al.